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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43630: Variant p.Pro40Ala

Killer cell immunoglobulin-like receptor 3DL2
Gene: KIR3DL2
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Variant information Variant position: help 40
Type of variant: help LB/B
Residue change: help From Proline (P) to Alanine (A) at position 40 (P40A, p.Pro40Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and hydrophobic (A)
BLOSUM score: help -1


Sequence information Variant position: help 40
Protein sequence length: help 455
Location on the sequence: help WPLMGGQDKPFLSARPSTVV P RGGHVALQCHYRRGFNNFML
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 22 – 455 Killer cell immunoglobulin-like receptor 3DL2
Topological domain 22 – 340 Extracellular



Literature citations
The natural killer cell receptor specific for HLA-A allotypes: a novel member of the p58/p70 family of inhibitory receptors that is characterized by three immunoglobulin-like domains and is expressed as a 140-kD disulphide-linked dimer.
Pende D.; Biassoni R.; Cantoni C.; Verdiani S.; Falco M.; di Donato C.; Accame L.; Bottino C.; Moretta A.; Moretta L.;
J. Exp. Med. 184:505-518(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANTS ALA-40; VAL-113; ASP-158 AND HIS-166; Human diversity in killer cell inhibitory receptor genes.
Uhrberg M.; Valiante N.M.; Shum B.P.; Shilling H.G.; Lienert-Weidenbach K.; Corliss B.; Tyan D.; Lanier L.L.; Parham P.;
Immunity 7:753-763(1997)
Cited for: VARIANTS ALA-40; VAL-113; ASP-158; HIS-166; PRO-228 AND THR-252;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.